ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and Athena Diagnostics Inc

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
0 143 0 100 13 0 2 115

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 1 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 1 0 5 3
likely benign 0 0 4 0 92
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 115
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000339.3(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000495.5(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000533.5(PLP1):c.-31C>T rs2233695
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001031737.3(CCDC78):c.492+1G>A rs138669350
NM_001077691.2(ALG9):c.251C>T (p.Ser84Leu) rs17113312
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001165928.3(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_001172435.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002529.3(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004484.3(GPC3):c.1285G>A (p.Val429Met) rs11539789
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006702.5(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187
NM_015560.2(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686
NM_021072.4(HCN1):c.203_205GCG[5] (p.Gly73_Gly74del) rs747975797
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_030582.4(COL18A1):c.56C>T (p.Ala19Val) rs7277693
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_173354.5(SIK1):c.274-3del rs550878772
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566

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